Variant report

Variant	rs2107900
Chromosome Location	chr7:139540601-139540602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139477083..139479483-chr7:139538319..139540657,2	K562	blood:
2	chr7:139539840..139543405-chr7:139545009..139547964,3	K562	blood:
3	chr7:139540100..139542008-chr7:139632227..139634589,2	K562	blood:

Variant related genes	Relation type
ENSG00000064393	Chromatin interaction
ENSG00000059377	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10237429	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10253277	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10256282	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10257313	1.00[CHB][hapmap]
rs10277705	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1074977	1.00[CHB][hapmap]
rs12534299	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs194152	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990354	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2079845	1.00[CHB][hapmap]
rs2267679	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2267680	0.85[ASW][hapmap];0.82[GIH][hapmap]
rs2267682	0.83[TSI][hapmap]
rs2361644	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs2361698	0.83[EUR][1000 genomes]
rs4311593	1.00[CHB][hapmap]
rs4590360	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4725857	0.86[ASW][hapmap];0.85[CEU][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4726776	1.00[CHB][hapmap]
rs4726815	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4726838	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4727013	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56147462	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6464800	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6946849	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6949027	1.00[CHB][hapmap]
rs6951759	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.82[MEX][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6952056	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6952322	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6958644	1.00[CHB][hapmap]
rs6974960	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6980375	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs764745	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs764746	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7796073	0.89[JPT][hapmap]
rs7810415	0.94[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap]
rs8192803	0.82[GIH][hapmap]
rs9632668	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139531200-139542000	Weak transcription	Right Atrium	heart
2	chr7:139531400-139542200	Weak transcription	Spleen	Spleen
3	chr7:139531400-139544600	Weak transcription	Gastric	stomach
4	chr7:139531400-139553800	Weak transcription	Primary T cells from cord blood	blood
5	chr7:139531400-139572600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:139531600-139542400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:139538000-139541800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:139538400-139541800	Weak transcription	GM12878-XiMat	blood
9	chr7:139538600-139541400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:139539400-139542000	Weak transcription	Fetal Lung	lung
11	chr7:139540000-139540800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:139540000-139540800	Strong transcription	Primary hematopoietic stem cells	blood
13	chr7:139540200-139540800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:139540400-139540800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr7:139540400-139540800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:139540400-139541000	Strong transcription	Thymus	Thymus
17	chr7:139540600-139540800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:139540600-139540800	ZNF genes & repeats	Esophagus	oesophagus
19	chr7:139540600-139540800	ZNF genes & repeats	Lung	lung
20	chr7:139540600-139540800	Enhancers	Pancreas	Pancrea
21	chr7:139540600-139541200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:139540600-139541600	Genic enhancers	Monocytes-CD14+_RO01746	blood
23	chr7:139540600-139545000	Genic enhancers	Primary monocytes fromperipheralblood	blood

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